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Literature DB >> 7188751

Difficulties in classification of the short rib-polydactyly syndromes.

E D Cherstvoy, I W Lurie, I A Shved, G I Lazjuk, T I Ostrowskaya, S S Usoev.

Abstract

A case of "short rib-polydactyly" (SRP) syndrome (type II-Saldino-Noonan) with a detailed study of the bones, muscles and peripheral nerves in the extremities is presented. Analysis of the literature (35 cases with different forms of SRP) and the comparison of clinical, genetic and morphological data lead us to consider that different types of SRP may be related to different alleles of the same gene. Genetic heterogeneity (mutations of different genes) is also possible.

Entities: Disease

Mesh：

Year: 1980 PMID： 7188751 DOI： 10.1007/bf00444756

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

15 in total

1. Saldino-Noonan short rib-polydactyly dwarfism syndrome;.

Authors: R B Lowry; N Wignall
Journal: Pediatrics Date: 1975-07 Impact factor: 7.124

2. [The syndrome of micromelic dwarfism and multiple anomalies].

Authors: I R Gordon; N J Brown
Journal: Ann Radiol (Paris) Date: 1976 Jan-Feb

3. A case of short rib polydactyly.

Authors: P Bidot-López; R C Ablow; J A Ogden; M J Mahoney
Journal: Pediatrics Date: 1978-03 Impact factor: 7.124

4. [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].

Authors: F Majewski; R A Pfeiffer; W Lenz; R Müller; G Feil; R Seiler
Journal: Z Kinderheilkd Date: 1971

5. [Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases].

Authors: B Le Marec; E Passarge; P Dellenbach; J Kerisit; J Signargout; B Ferrand; J Senecal
Journal: Ann Radiol (Paris) Date: 1973 Jan-Feb

6. Neonatal death dwarfism.

Authors: K Kozlowski; J Masel; L Morris; J Ryan; E Collins; P Van Vliet; H Woolnough
Journal: Australas Radiol Date: 1977-06

7. Short rib-polydactyly syndrome type 3.

Authors: P Naumoff; L W Young; J Mazer; A J Amortegui
Journal: Radiology Date: 1977-02 Impact factor: 11.105

8. [A case of short-rib-polydactyly syndrome (Saldino-Noonan type) (author's transl)].

Authors: T Tsuruta; T Kajiwara; T Kuroyanagi
Journal: Rinsho Hoshasen Date: 1978-08

9. A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect.

Authors: M Piepkorn; L E Karp; D Hickok; L Wiegenstein; J G Hall
Journal: Teratology Date: 1977-12

10. Short rib-polydactyly syndrome, Majewski type, in two male siblings.

Authors: T Motegi; M Kusunoki; T Nishi; T Hamada; N Sato; T Imamura; N Mohri
Journal: Hum Genet Date: 1979-07-18 Impact factor: 4.132

5 in total

1. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors: L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal: J Med Genet Date: 1999-06 Impact factor: 6.318